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1. Full Text A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
by Richard J. L. F. Lemmers and Patrick J. van der Vliet and Rinse Klooster and Sabrina Sacconi and Pilar Camaño and Johannes G. Dauwerse and Lauren Snider and Kirsten R. Straasheijm and Gert Jan van Ommen and George W. Padberg and Daniel G. Miller and Stephen J. Tapscott and Rabi Tawil and Rune R. Frants and Silvère M. van der Maarel
Science (American Association for the Advancement of Science), ISSN 0036-8075, 9/2010, Volume 329, Issue 5999, pp. 1650 - 1653
Chromosome polymorphism | Chromatin | Disease models | Genes | REPORTS | Polyadenylation | Medical genetics | Genetic diseases | Chromosomes | Human genetics | Research universities | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Haplotypes | Humans | Middle Aged | Child, Preschool | Molecular Sequence Data | Male | Muscular Dystrophy, Facioscapulohumeral - genetics | Chromosomes, Human, Pair 4 - genetics | RNA, Messenger - metabolism | Young Adult | Transfection | Base Sequence | Adult | Female | Transcription, Genetic | Genetic Predisposition to Disease | RNA, Messenger - genetics | RNA Stability | Homeodomain Proteins - genetics | Adolescent | Repetitive Sequences, Nucleic Acid | Aged | Models, Genetic | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 10 - genetics | Homeodomain Proteins - physiology | Facioscapulohumeral muscular dystrophy | Genetic aspects | Models | Gene expression | Muscular dystrophy | Polymorphism | Index Medicus
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2. Vegetation ecology
by Maarel, E. van der
2005, ISBN 9780632057610, x, 395
Plant communities | Plant ecology
Book
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3. Full Text The Unique Branching Patterns of Deinococcus Glycogen Branching Enzymes Are Determined by Their N-Terminal Domains
by M. Palomo and S. Kralj and M. J. E. C. van der Maarel and L. Dijkhuizen
Applied and Environmental Microbiology, ISSN 0099-2240, 03/2009, Volume 75, Issue 5, pp. 1355 - 1362
ALPHA-AMYLASE FAMILY | MAIZE ENDOSPERM | ACTIVATED PROTEIN-KINASE | CYCLODEXTRIN GLYCOSYLTRANSFERASE | BACTERIAL GLYCOGEN | CRYSTAL-STRUCTURE | ESCHERICHIA-COLI | SEQUENCE | PHASEOLUS-VULGARIS L | BINDING | Life Sciences & Biomedicine | Microbiology | Biotechnology & Applied Microbiology | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Protein Structure, Tertiary | Amino Acid Sequence | Catalytic Domain | Bacterial Proteins - genetics | Molecular Sequence Data | Substrate Specificity | Phylogeny | Deinococcus - genetics | 1,4-alpha-Glucan Branching Enzyme - metabolism | Sequence Alignment | Amylose | Glycogen - metabolism | 1,4-alpha-Glucan Branching Enzyme - genetics | Bacterial Proteins - metabolism | Deinococcus - enzymology | Binding Sites | Amylopectin - metabolism | Glycogen | Analysis | Physiological aspects | Hydrophobic effect | Deinococcus | Genetic aspects | Chemical properties | Structure | Proteins | Enzymes | Bacteria | Amino acids | Glucose | Binding sites | Amino acid sequence | Index Medicus | Enzymology and Protein Engineering
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4. Full Text Biomarker Evidence for Widespread Anaerobic Methane Oxidation in Mediterranean Sediments by a Consortium of Methanogenic Archaea and Bacteria
by Richard D. Pancost and Jaap S. Sinninghe Damsté and Saskia de Lint and Marc J. E. C. van der Maarel and Jan C. Gottschal and The Medinaut Shipboard Scientific Party and Medinaut Shipboard Sci Party and Netherlands Inst. for Sea Research, Den Burg (NL)
Applied and Environmental Microbiology, ISSN 0099-2240, 03/2000, Volume 66, Issue 3, pp. 1126 - 1132
Life Sciences & Biomedicine | Microbiology | Biotechnology & Applied Microbiology | Science & Technology | Fundamental and applied biological sciences. Psychology | Microbial ecology | Various environments (extraatmospheric space, air, water) | Biological and medical sciences | Animal, plant and microbial ecology | Methane | Methanobacteriaceae | Research | Bacteria | Oxidation | Biochemistry | Sediments | Italy, Mediterranean Sea | MEDITERRANEAN SEA | ENVIRONMENTAL SCIENCES | RADIATION, THERMAL, AND OTHER ENVIRONMENTAL POLLUTANT EFFECTS ON LIVING ORGANISMS AND BIOLOGICAL MATERIALS | METHANE | METHANOGENIC BACTERIA | SEDIMENTS | BIOLOGICAL MARKERS | BIOLOGICAL INDICATORS | WATER POLLUTION | Geomicrobiology
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5. Full Text Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice
by Klooster, R and Plomp, J.J and Huijbers, M.G and Niks, E.H and Straasheijm, K.R and Detmers, F.J.M and Hermans, P.W.M and Sleijpen, K and Verrips, A and Losen, M and Martinez-Martinez, P and Baets, M.H.V. de and Maarel, S.M. van der and Verschuuren, J.J
Brain (London, England : 1878), ISSN 0006-8950, 2012, Volume 135, Issue 4, pp. 1081 - 1101
myasthenia gravis | electrophysiology | muscle-specific kinase | neuromuscular junction | autoantibodies | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Myasthenia Gravis - complications | Neuromuscular Junction Diseases - pathology | Immunoglobulin G - blood | Neuromuscular Junction - drug effects | Autoantibodies - blood | Humans | Middle Aged | Myasthenia Gravis - therapy | Receptor Protein-Tyrosine Kinases - immunology | Male | Young Adult | Motor Endplate - drug effects | Neuromuscular Junction Diseases - complications | Adult | Female | Electromyography | Neural Conduction - drug effects | Action Potentials - drug effects | Neuromuscular Junction - pathology | Disease Models, Animal | Plasmapheresis - methods | Microscopy, Electron, Transmission | Myasthenia Gravis - blood | Mice, Inbred C57BL | Neural Conduction - physiology | Mice, SCID | Neuromuscular Junction - physiopathology | Neuromuscular Junction - ultrastructure | Immunoglobulin G - adverse effects | Animals | Muscle Contraction - drug effects | Receptors, Cholinergic - immunology | Mice | Muscle Strength - drug effects | Myasthenia Gravis - immunology | Motor Endplate - physiopathology | Muscle Strength - physiology | Index Medicus | Abridged Index Medicus | Neurotransmitter release | Autoantibodies | Immunoglobulin G | Benign | Immunodeficiency | Muscles | Depression | Pathogenicity | Myasthenia gravis | Acetylcholine receptors | MUSK protein | Neuromuscular junctions | Paralysis | Neurotransmission | Immune system
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6. Full Text Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy
by Lemmers, Richard J.L.F and Wohlgemuth, Mariëlle and van der Gaag, Kristiaan J and van der Vliet, Patrick J and van Teijlingen, Corrie M.M and de Knijff, Peter and Padberg, George W and Frants, Rune R and van der Maarel, Silvère M
American journal of human genetics, ISSN 0002-9297, 2007, Volume 81, Issue 5, pp. 884 - 894
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Classical genetics, quantitative genetics, hybrids | Human | General aspects. Genetic counseling | Neurology | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Consensus Sequence | Haplotypes | Humans | Molecular Sequence Data | Male | Muscular Dystrophy, Facioscapulohumeral - genetics | Genetic Markers | Chromosomes, Human, Pair 4 - genetics | Mutation - genetics | Case-Control Studies | Base Pairing | Pedigree | Base Sequence | Alleles | Repetitive Sequences, Nucleic Acid | Female | Telomere - genetics | Genetic aspects | Research | Single nucleotide polymorphisms | Muscular dystrophy | Models | Biological variation | Chromosomes | Genes | Index Medicus
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7. Full Text The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1
by Sacconi, Sabrina and Lemmers, Richard J.L.F and Balog, Judit and van der Vliet, Patrick J and Lahaut, Pauline and van Nieuwenhuizen, Merlijn P and Straasheijm, Kirsten R and Debipersad, Rashmie D and Vos-Versteeg, Marianne and Salviati, Leonardo and Casarin, Alberto and Pegoraro, Elena and Tawil, Rabi and Bakker, Egbert and Tapscott, Stephen J and Desnuelle, Claude and van der Maarel, Silvère M
American journal of human genetics, ISSN 0002-9297, 10/2013, Volume 93, Issue 4, pp. 744 - 751
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Amino Acid Sequence | Humans | Middle Aged | Molecular Sequence Data | Male | Muscular Dystrophy, Facioscapulohumeral - genetics | Muscle Fibers, Skeletal - metabolism | Homeodomain Proteins - genetics | Chromosomal Proteins, Non-Histone - genetics | Young Adult | Pedigree | Base Sequence | Adolescent | Alleles | Adult | Female | Aged | Mutation | Child | Physiological aspects | Genetic aspects | Research | Gene expression | Chromosomes | Health aspects | Muscular dystrophy | Musculoskeletal system | Chromatin | Correlation analysis | Index Medicus | Life Sciences | Development Biology | Report
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8. Full Text Standard assays do not predict the efficiency of commercial cellulase preparations towards plant materials
by Kabel, M.A and Maarel, van der, M.J.E.C and Klip, G and Voragen, A.G.J and Schols, H.A
Biotechnology and bioengineering, ISSN 0006-3592, 2006, Volume 93, Issue 1, pp. 56 - 63
wheat bran | fractionation | components | trichoderma-viride | purification | degradation | ethanol | cell-wall | selective extraction | endoglucanases | cellulose | commercial cellulase | grass | xylan | bioethanol | xylanase | Commercial cellulase | Xylanase | Cellulose | Xylan | Bioethanol | Grass | Wheat bran | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Fundamental and applied biological sciences. Psychology | Biotechnology | Biological and medical sciences | Cellulase - chemistry | Cellulase - standards | Cellulose - chemistry | Xylans - chemistry | Poaceae - chemistry | Biological Assay | Cellulase - analysis | Dietary Fiber | Glucans - chemistry | Coloring Agents - chemistry | Enzymes | Grasses | Ethanol | Comparative analysis | Biomass energy | Index Medicus
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9. Full Text Population-based incidence and prevalence of facioscapulohumeral dystrophy
by Deenen, J.C.W and Arnts, H and Maarel, S.M. van der and Padberg, G.W.A.M and Verschuuren, J.J and Bakker, E and Weinreich, S.S and Verbeek, A.L.M and Engelen, B.G.M. van
Neurology, ISSN 0028-3878, 2014, Volume 83, Issue 12, pp. 1056 - 1059
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Prevalence | Humans | Middle Aged | Netherlands - epidemiology | Adult | Female | Male | Registries | Aged | Muscular Dystrophy, Facioscapulohumeral - epidemiology | Incidence | Index Medicus | Abridged Index Medicus | 185
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10. Full Text Amylomaltase of Pyrobaculum aerophilum IM2 Produces Thermoreversible Starch Gels
by Thijs Kaper and Boguslawa Talik and Thijs J. Ettema and Herman Bos and Marc J. E. C. van der Maarel and Lubbert Dijkhuizen
Applied and Environmental Microbiology, ISSN 0099-2240, 09/2005, Volume 71, Issue 9, pp. 5098 - 5106
Life Sciences & Biomedicine | Microbiology | Biotechnology & Applied Microbiology | Science & Technology | Fundamental and applied biological sciences. Psychology | Biotechnology | Miscellaneous | Metabolism. Enzymes | Mission oriented research | Biology of microorganisms of confirmed or potential industrial interest | Biological and medical sciences | Bacteriology | Food Industry - methods | Escherichia coli - enzymology | Glycogen Debranching Enzyme System - metabolism | Glycogen Debranching Enzyme System - chemistry | Pyrobaculum - enzymology | Enzyme Stability | Starch - metabolism | Hot Temperature | Escherichia coli - genetics | Glycogen Debranching Enzyme System - genetics | Cloning, Molecular | Gels - metabolism | Pyrobaculum - genetics | Kinetics | Binding Sites | Proteins | Carbohydrates | Bacteria | Genes | Index Medicus | Enzymology and Protein Engineering | crystal-structure | pyrococcus-furiosus | hyperthermophilic archaeon | alpha-amylase family | cyclodextrin-glycosyltransferase | archaeon thermococcus-litoralis | disproportionating enzyme | escherichia-coli | large cyclic glucans | potato d-enzyme
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